Cockayne Syndrome
https://pmc.ncbi.nlm.nih.gov/articles/PMC12364674
Cockayne Syndrome (CS) is a rare inherited disorder that progressively affects growth and multiple organs, including the brain. CS is often misdiagnosed as clinical manifestations overlap with cerebral palsy (CP). This study, conducted in China, analysed the cases of eight children (6 males, 2 females) with ERCC8 gene-related CS, who were initially misdiagnosed with CP. The aim was to identify features distinguishing CS from CP more clearly. All eight children exhibited early motor delay and Achilles tendon contracture, small head size and growth failure. Brain scans showed white matter loss and brain abnormalities in 6 out of 8 patients. Many had dental problems, abnormal skin reaction to sunlight, and two exhibited anhidrosis (no sweating). Every patient showed high liver enzyme levels, and worse liver function was linked with more severe disease, suggesting that hepatic dysfunction could serve as a biomarker for disease progression. Genetic testing confirmed several pathogenic ERCC8 gene variants resulting from different mutation types (exon deletions, nonsense, frameshift and splice-site mutations). Although no definitive treatments exist, rehabilitation therapy improved mobility and balance. While CS is incompletely understood, this study suggests that genetic testing is essential for definitive diagnosis, liver function assessment is relevant in disease monitoring, and early rehabilitation can improve motor function and quality of life.